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Article

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.

The Journal of clinical investigation - 1 Apr 2007

Van Wesenbeeck Liesbeth, Odgren Paul R, Coxon Fraser P, Frattini Annalisa, Moens Pierre, Perdu Bram, MacKay Carole A, Van Hul Els, Timmermans Jean-Pierre, Vanhoenacker Filip, Jacobs Ruben, Peruzzi Barbara, Teti Anna, Helfrich Miep H, Rogers Michael J, Villa Anna, Van Hul Wim

Abstract excerpt

This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic phenotype of the incisors absent rat as well as an intermediate type of human osteopetrosis. Electron and confocal microscopic analysis demonstrated that monocytes from a patient homozygous for the mutation differentiated into osteoclasts normally, but when...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17404618
DOI: 10.1172/JCI30328
PMCID: PMC1838941

Genes

PLEKHM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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